I'm still waiting to find out what was wrong with the young woman from June 20 who couldn't keep food down.
Does Dr Sanders know what was wrong with her?
Could she let us know?
5
Phosphaturic Mesenchymal Tumors, most of which are benign, are very rare indeed. Even the largest published series are usually pooled cases from many institutions. More common tumors that cause metabolic bone diseases, like hyperparathyroidism arising from a benign parathyroid gland tumor, are often diagnosed much earlier and before signs and symptoms develop simply because the serum calcium is routinely measured as one of the usual metabolic parameters on the multichannel chemistry analyzers in the laboratories that primary care docs use for annual physical exams. Serum phosphate levels aren't performed any more on these machines because insurance companies typically don't reimburse for these if they were done as a part an overall metabolic panel. This is because when reimbursals for the various tests were decided, it wasn't known that phosphorous was controlled by the FGF23 feedback loop and therefore is an endocrine parameter. Consequently, serum phosphate (at least in the United States) has to be ordered as a completely separate test from a metabolic panel. Until serum phosphate tests become as routine as serum calcium tests, this type of tumor as well as other causes of low serum phosphate will often stay under the radar until there are symptoms and signs which often occur late in the course of the disease.
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As usual, a fascinating who doneit medical story.
Thanks.
To be honest, I am kind of jealous of these patients who have such mysterious issues with health.
I am kind of a bore in that regard. Pushing 70, all I have is high blood pressure easily manageable by Diovan on a daily basis.
So, not taking enjoyment in issues with these patients, but still kind of jealous.
1
Adenosine Triphosphate (ATP) is the chemical compound used by the body as the energy source to fuel its reactions. During the Krebs cycle, ATP is produced in the mitochondria from the breakdown of fats and carbohydrates (sugars). The Krebs cycle occurs in the mitochondria which are often termed the "powerhouses" of the cell. A deficit of phosphate due to a surplus of the hormone FGF23 would certainly impact the production of Adenosine Triphosphate in the Krebs cycle. As a result of lower ATP levels, again the body's chemical energy source, the patient would feel weak and have reduced strength.
Interestingly, Tuesday's Science section of the Times (07/10/2018) contains a fascinating article by Gina Kolata discussing how researchers were gaining some successes in organ and tissue regeneration by simply infusing damaged organs and tissues with doses of mitochondria. Since mitochondria replicate independently from other cellular organelles, they are less dependent on integration into the cell's DNA than other organelles. And, as the powerhouses of the cell, they and their chemical products, as illustrated by this runner's case, are vital to tissue and organ health.
[JJL 7/16 M 11:46a Greenville NC]
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Glad she's in the mend. We need more great doctors.
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I can't help but think this story is for those 10% who have money for decent health care and weddings
13
Maybe it’s a story for those who have unexplained ailments and are losing hope. Maybe it’s just an interesting story. Not everything needs to be brought back to a particular worldview, no matter how ‘correct’ it is.
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The first thing I would look for it Vitamin levels were low, would be elevated calcium levels in the blood and high parathyroid hormone levels. I'm glad doctors finally found cause of problem. Often doctors prescribe opioids and antidepressants. It took five minutes to find a tumor on my parathyroid gland that was causing significant osteoporosis and stress fractures. I wish I had studied harder. I diagnosed my problems by observing lab results. Why are so many physicians clueless or lazy?
17
Harsh - but with some truth.
There was a kind of misdirection because of the running history - "Common wisdom" would suggest an injury this was the root problem.
If an original conclusion is accepted and passed along as fact -that's where danger lies. Drs., being human, look for a narrative that makes sense, and it can be hard to get around the immediate horizon. I think.
I also suspect that a lot has to do with how they hear patients who report pain and fatigue: As you wrote, that often ends in prescribing painkillers or antidepressants. They might have been blind to the fact that a patient used to running beyond normal pain - would not have been complaining unless her symptoms were exceptional.
I once had experience with a teen who had a terrible health breakdown-probably due to a mosquito-born encephalitis that went unseen initially (making later symptoms baffling). A review of the entire medical record revealed notes from Drs. along the way who made stabs at diagnosis, and making sense of the etiology of the disease, including blaming the mother for not getting medical care, when ALL of their guesses had already been ruled out. (Do EMRs eliminate this?)
Without a supportive family, and OC, medical coverage, this young woman's condition would have deteriorated.
But, neither her primary physician nor the endocrinologist dismissed her complaints.
Moreover, even the Yale specialist, Dr. Insogna, had seen very few patients with this tumor - a true outlier Dx.
11
Aren't there diagnostic algorithms for doctors and patients so that it doesn't take luck, fabulous insurance, personal wealth, supportive family, and tenacity to find out what's wrong? These medical mystery columns read as if they were written before computers and the internet. Would a diagnostic algorithm be that hard to develop?
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There is literally hundreds of thousands of possible diagnoses that no single doctor could possibly cram in his or her skill set. That’s why this patient got referred to different specialists, until she found a definitive diagnosis. You seem to view computers and the internet as omnipotent tools that can solve anything under the sun. Look around you and the rest of the world. There is literally hunger, violence, poverty that are not molecular level like bone diseases, have you asked yourself why there’s no algorthym to solve it?
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Hunger is easy to solve- we have enough food to feed everyone. What's missing is enough people caring that it becomes a political issue so that we allocate the resources to do something about it.
3
Interesting story, the only downside to it, is now you will have 99% of hypochondriacs going to their doctor telling them they are suffering from this affliction.
7
That's a good thing. The evil gluten thing is so yesterday. Time for something new.
21
Bingo Ancient! My hypo sister and also a friend of mine already think they have it and will go to the doctor for it, running up the insurance tab the both of us pay.
People don't realize that three of the top reasons medical care is so much in this country are.
1-A de facto criminal health care system where the wealth of the billionaire HMO/Phrama exec is put over the health of the patient.
2-Outright crooks and thieves.
3-Hypos.
2
Love this story!
8
If this woman was in pain for so long, and clearly had physical symptoms, why was a bone scan not done earlier? Based on recent experience, I suspect insurance would have denied it. Which is infuriating.
Love this series.
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A tumor which is not cancerous but causes so much trouble needs a different designation since it was hardly benign.
32
As a personal injury attorney, I see a lot of orthopedists diagnosing patients with CRPS. While it is a legitimate disorder, many doctors just slap the label on when a patient experiences pain that is not characteristic of the injury. I believe that in many cases it is an incorrect diagnosis. This certainly appears to confirm my suspicion that CRPS diagnoses are being abused by orthopedists.
14
My experience was the opposite. I went to four orthopedists before I was correctly diagnosed and treated. For anyone reading who is going through it, I want you to know that my recovery was 100%. When it hurts, no matter how much it hurts, get as much exercise as you can. It gets better, and in my case it completely went away.
11
I would love to know more about your experience. Let me know if you are will to speak or write to me as I am seeking an ortho locally for terrible foot pain. Thank you in advance.
Ah she is so lucky, concerned doctors, appropriate referrals and appropriate testing. she had a PCP who was still curious. she could have spent years with the Chronic pain diagnosis or what used to be call RSD.
When I open one of your reports Dr Sanders i hope there will be a hint to help me in my search and I am sure many of your readers are doing the same for themselves or loved ones.
Again I ask you and your readers where they go to find help for their medical mysteries. I find in every story its really about luck, finding that one doctor with the answer . Is this the best medicine can do. Its just like going to Vegas hoping to to get lucky.
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The best thing I have found, and several people I know with harder to diagnose/treat issues (mine turned out to be mostly due to several years of misdiagnosis because of physicians being told too often “it’s never lupus”...for me, it was...and the treatment couldn’t have come a moment too soon after years of several wrong directions) is to contact the experts in their field. Even if they can’t fit you in, or you cannot afford to see them, they can often point you in the direction of the best specialist to see in your area. Many doctors who are top experts in specialized fields understand how difficult it is to get appropriate care and don’t mind at all helping out with an email or phone call.
3
If they would have done the bone scan first instead of the ct they would have discovered these things sooner, including the fracture in the foot.
20
I experienced chronic pain that was resolved only after several years of searching for an answer and finding it with the aid of some amazing doctors. I have been able to resume most but not all of my former physical activities and exercise routines—which I thought would never be possible again.
Not knowing what’s causing a condition is scary and depressing in addition to dealing with the physical issues and limitations. Never give up looking for answers, new discoveries and treatments are being made all the time.
Congratulations to this woman for her persistence and gratitude to those who helped her heal. I wish her the best.
31
I went through the same thing for two years until I found a doctor who actually listened to me. I kept telling everybody that I had pain in an ankle which had fractured two years earlier but they all said it was the hip, sciatica, etc. Multiple MRIs, physical therapy, fracture of the other ankle since the bad one was so weak. Finally, the doctor sent me for a scan and discovered that the bone never totally re-grew. He gave me a treatment of calcitonin and after two days I could walk. I still don't walk properly and stairs without a railing are impossible - the heatwave doesn't help (no way I can walk outside). Also have neuropathy. Am being treated by a specialist in Indian medecine and making a ton of progress. You really have to persist. And, importantly, fight with your insurance company....
5
Very interesting - I had a patient (not young, not athletic) who was similarly diagnosed with oncogenic osteomalacia (perhaps that term is no longer used?) some years ago, before FGF23 was discovered - she had innumerable fractures - but a thorough search for any tumor that might be the underlying cause was fruitless
14
As a runner who has endured a 15 month long journey through degenerative plantar fasciitis accompanied by a moderate plantar fascia ligament tear (confirmed by MRI), months of pain, limping, altered gait symptoms, immobilization, loss of cardiovascular conditioning and strength, physical therapy, taping, PRP injections, depression and eventually plantar fascia release surgery I found this article fascinating and enlightening. This woman's perseverance is to be admired. Kudos to her and her dream to find an avenue back into running. Same goes for her medical team.
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I hope you are feeling better, David, and that you are well on your way to healing.
13
The finding that some tumors were secreting a compound causing the kidney to leak phosphorous and not produce enough Vitamin D was the basis for discovering the same molecule caused Vitamin D Resistant Rickets. This is an X linked dominate trait that was very difficult to treat until now when a recent study showed blocking the effects of the compound can relieve most of the lab abnormalities and heal the bones.
Baby steps often lead to giant steps.
31
What was the tumor type and what was the evidence for this tumor as the source of FGF23? Was the tumor tested for FGF23 levels and what is the criteria for defining abnormally elevated levels in tumors? What tumor types produce this growth factor? Do pathologists include recs in their reports to check phosphate and FGF23 serum levels in certain tumor types? Should they? The reality is that the benign tumor (phosphaturic mesenchymal tumor) typically associated with this paraneoplastic syndrome is exceedingly rare and difficult for pathologists to recognize/often misdiagnosed (Am J Surg Pathol. 2004 Jan;28(1):1-30.), which makes the medical mystery here all the more provocative.
20
Love these stories, and God bless modern medicine!
23
No. Science blesses modern medicine.
33
That’s why I get a pain when I even think about running; it keeps me from running, which is probably what is the cause of this malady In the first placewith this “benign “ tumor formation That caused the low vitamin D/phosphate uptake.
1
Good one!
SO interesting. Thank u for the article.
20
Resume running ??? Very brave and foolhardy. Seriously.
17
Brave, yes. But why is it foolhardy?
Almost immediately I thought of Serena Burla, a distance runner who had a cancerous tumor removed from her hamstring in 2010, and had a recurrence in 2017. She competed in this year’s Boston Marathon and finished in 2:42:25.
Runners train, some have a full phalanx of doctors, nutritionists, etc., and would not do anything that would jeopardize their health. I’m sure that is the case here as well.
For some runners, gettting right back into the sport is its own best therapy. Running teaches you that you cannot give up or give in, no matter the curcumstances. If this were me, I’d be getting back out there, too.
27
@Paul: Not necessarily. Most running injuries are easily preventable and treatable, and people need not end up as “mini cripples”.
6
@Paul: Not necessarily. Most running injuries are easily preventable and treatable, and people need not end up as “mini cripples”, as you put it.
4
Phosphate. One more thing to check in patients with chronic pain.
35
Fascinating. Dodging a figurative bullet by a mere handful of years and a measure of luck.
11
Makes me wonder how many people's health has dwindled until they died, from the same type of tumor that was never recognized or treated.
The fact that this disorder is rarely "seen" does not necessarily mean that it rarely occurs.
89
Congrats to this woman re solving her rare condition.
Now do me a favor, don't run any more marathons or other gym rat type stuff.
If you do you will be back in the direction of pain, back, knee, feet and other problems and become a mini cripple, albeit not as bad as your rare condition and require many procedures and operations.
14
Your comment is not supported by the actual data, which are to the contrary.
9
This is, by far, my favorite column in the New York Times, and it's worth my subscription price alone. Please keep it up. The human body is amazing and terrible at the same time.
127
Dr Lisa - excellent result for this patient, but what about the young man who frequently fainted? You featured him on May 4, 2018. "I’ll post an update in the coming days," you added. Did I miss the update?
74
Yes, when will we see the diagnoses of earlier stories? Or have these cases not been solved yet?
2
Fascinating case!! Which is easy enough to say as a mere observer, not having had to endure all that pain. For the patient, what an incredible (and frustrating) journey. I'm so glad it has a happy ending.
Thanks to NYT for publishing this type of article.
32
I'm envisioning a brave new future in which all medical knowledge resides on a super-computer that any doctor can consult. With such a system in place, a first diagnosis for this patient would be available within seconds that would include as one of the possible causes, excess FGF23.
44
It should have happened already, and yet seem to be going in the opposite direction now. According to Jon Campbell of the Daily Beast (July 12):
"The Trump Administration is planning to eliminate a vast trove of medical guidelines that for nearly 20 years has been a critical resource for doctors, researchers and others in the medical community."
13
What remarkable detective work. It must be frustrating to have such an apparently slow recovery process. Best wishes for regained strength and health!
41
Frustrating? I’ve had foot pain for 22 years, after hurting it by overhiking. Three surgeries, PT more than once, cortisone shots, etc. Though I was uninsured much of this time, I did what I could. It still hurts. I don’t walk much. I miss hiking and being active. I’ve given up - despite this column’s best intentions, not all pain can be healed.
5
This case has a self-congratulatory quality that suggests that through the brilliance of modern medicine, a mystery health ailment has been resolved and its origins revealed. What the author ignores is that the etiology of the FGF23-secreting tumor was never elucidated. The author seems to glide effortlessly over the fact that this wasn't explained. Let's look at some of the origins of tumors: toxins, viruses, and radiation. Let's imagine that the patient has an exposure to toxins or radiation in her environment or is infected with a virus. What is to stop the tumor from coming back? She probably has a genetic predisposition to developing this tumor, so it would not be surprising if this were to occur. Case NOT solved.
10
1. I wonder whether the patient would agree with you that "case NOT solved"??
2. The article noted that the expert at Yale has seen a handful of such cases. If these cases frequently resulted in a recurrence, then presumably he would have noted this, and it would have been included in the article.
3. What do you mean that the case is note solved? YOU solved it straight away: "She probably has a genetic predisposition to developing this tumor, so it would not be surprising if this were to occur."
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And if the tumor recurs, both patient and doctor will know exactly where to look first: at her FGF23 levels. With virtually no chance that she will have to endure a similar years-long search for the cause of her debilitating illness, I'm sure the patient would say: "case solved."
56
From a purely practical standpoint, first, the author is given a word limit by her editors. There is information about the case that may be overly or needlessly technical for a popular audience. (I presume you read medical journals so you are an exception and you shouldn't lord that over the rest of us.) And, it's a story as much as it is an analysis.
39